Familial hypercholesterolemia (FH) is an inherited condition resulting in increased risk of premature cardiovascular disease. This risk can be reduced with early diagnosis and treatment, but it can be challenging to identify individuals with FH. Cascade screening, the most efficient and cost‐effective identification method, requires FH patients to communicate with their at‐risk family and encourage them to pursue screening. Beyond FH, patients with conditions increasing disease risk to family members report barriers to the communication process such as insufficient knowledge of the condition and discomfort informing relatives. We conducted a pilot study of a genetic counseling intervention incorporating behavior‐change principles from motivational interviewing (MI) and the extended parallel process model (EPPM) to help parents of children with FH overcome these barriers and improve cascade screening rates for FH. Of the 13 participants who completed the intervention and post‐intervention surveys, 6 reported contacting and/or screening additional relatives. A large effect size in increasing communication and screening was observed (η2 = 0.20), with the mean percent of at‐risk relatives contacted rising from 33% to 45%, and the mean percent screened rising from 32% to 42%. On average, 2.23 new relatives were contacted and 2.46 were screened, per participant, by the end of the study. Direct content analysis revealed that despite the open‐ended nature of the goal‐setting process, participant goals fell into two categories including those who set goals focused on communicating with and screening family members (n = 9) and those who set goals only focused on managing FH (n = 4). Overall, the communication and screening rates reported after the intervention were higher than previous observations in adult FH populations. These results suggest this EPPM/MI genetic counseling intervention could be a useful tool for increasing communication and cascade screening for FH. With further research on goal‐setting techniques, the intervention could be refined and replicated to identify more individuals affected by FH or modified for use with other actionable genetic conditions.

No abstract

Familial hypercholesterolaemia (FH) is a common genetic form of high cholesterol that has serious impacts on cardiovascular health when untreated. Despite the potential benefits of early identification, FH is underdiagnosed in most countries. Widespread population screening utilising universal and cascade models has the potential to increase FH diagnoses and improve disease outcomes. Investigation of various methodologies and ethical considerations for implementing these models in practice has highlighted the promise and existing challenges in addressing this public health issue. Defining the ethics framework for FH screening will inform methodology and delineate how individual rights will be respected. Use of a social justice lens in the gathering of evidence and the creation of the screening process will better ensure that FH screening reduces rather than further entrenches existing health inequities. Further evidence is needed to demonstrate the benefit, utility and engagement across diverse communities. Key Concepts Familial hypercholesterolaemia (FH) is a common genetic cause of high cholesterol that remains widely underdiagnosed despite its serious implications for cardiovascular health when untreated. FH can be diagnosed using lipid levels, clinical criteria and/or genetic testing, but the best way to regularly use these tools has been debated. Various population screening models have been considered and investigated for improving the identification of FH, including universal and cascade screening. Strategies to implement screening models in practice are being explored and range from patient databases and diagnostic algorithms to educational efforts for providers and the general public. Both logistical and ethical barriers to implementing these models have been identified and must be addressed in order to create robust screening programmes. Defining the ethics framework for FH screening will inform the methodology and delineate how individual rights will be respected. Use of a social justice lens in the gathering of evidence and the creation of the screening process will better ensure that FH screening reduces rather than further entrenches existing health inequities.